Scientific background:

Summary: The gene PAX4 encodes a transcription factor that plays an important role in development of pancreatic islets and the regulation of insulin secretion. Mutations cause type 2 diabetes with susceptibility to ketone acidosis and autosomal dominant MODY9 diabetes.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Carrier testing
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	The test is only specific about the mutation already known in this kindred.

Literature: 

Shimajiri Y et al. (2001) A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese.
Mauvais-Jarvis F et al. (2004) PAX4 gene variations predispose to ketosis-prone diabetes.
Plengvidhya N et al. (2007) PAX4 mutations in Thais with maturity onset diabetes of the young.